scholarly journals Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure

Medicine ◽  
2022 ◽  
Vol 101 (2) ◽  
pp. e28547
Author(s):  
Nguyen Pham Anh Hoa ◽  
Nguyen Thi Kim Lien ◽  
Nguyen Van Tung ◽  
Nguyen Ngoc Lan ◽  
Nguyen Thi Phuong Mai ◽  
...  
Keyword(s):  
Liver Failure ◽  
Biliary Atresia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Wilson Disease ◽  
Severe Liver ◽  
Whole Exome

845 Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes

2014 ◽  
Vol 146 (5) ◽  
pp. S-928 ◽  
Author(s):  
Anya Mezina ◽  
Khanjan Gandhi ◽  
Aniko Sabo ◽  
Donna Muzny ◽  
Richard Gibbs ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Variants ◽  
Whole Exome ◽  
Abcb4 Gene

scholarly journals Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)

2015 ◽  
Vol 61 (1) ◽  
pp. 172-181 ◽  
Author(s):  
Weigang Lv ◽  
Xianda Wei ◽  
Ruolan Guo ◽  
Qin Liu ◽  
Yu Zheng ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Single Molecule ◽  
Wilson Disease ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Inverse Pcr ◽  
Noninvasive Prenatal Testing ◽  
Whole Exome ◽  
Monogenic Diseases

Abstract BACKGROUND Noninvasive prenatal testing (NIPT) for monogenic diseases by use of PCR-based strategies requires precise quantification of mutant fetal alleles circulating in the maternal plasma. The study describes the development and validation of a novel assay termed circulating single-molecule amplification and resequencing technology (cSMART) for counting single allelic molecules in plasma. Here we demonstrate the suitability of cSMART for NIPT, with Wilson Disease (WD) as proof of concept. METHODS We used Sanger and whole-exome sequencing to identify familial ATP7B (ATPase, Cu++ transporting, β polypeptide) gene mutations. For cSMART, single molecules were tagged with unique barcodes and circularized, and alleles were targeted and replicated by inverse PCR. The unique single allelic molecules were identified by sequencing and counted, and the percentage of mutant alleles in the original maternal plasma sample was used to determine fetal genotypes. RESULTS Four families with WD pedigrees consented to the study. Using Sanger and whole-exome sequencing, we mapped the pathogenic ATP7B mutations in each pedigree and confirmed the proband's original diagnosis of WD. After validation of cSMART with defined plasma models mimicking fetal inheritance of paternal, maternal, or both parental mutant alleles, we retrospectively showed in second pregnancies that the fetal genotypes assigned by invasive testing and NIPT were concordant. CONCLUSIONS We developed a reliable and accurate NIPT assay that correctly diagnosed the fetal genotypes in 4 pregnancies at risk for WD. This novel technology has potential as a universal strategy for NIPT of other monogenic disorders, since it requires only knowledge of the parental pathogenic mutations.

scholarly journals Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients

2020 ◽  
Vol 6 (4) ◽  
pp. 347-353
Author(s):  
Kubilay Gürünlüoğlu ◽  
Ahmet Koç ◽  
Kübra Durmuş ◽  
Harika Gözükara Bağ ◽  
Canan Ceran ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Analysis ◽  
Type Iii ◽  
Whole Exome

Whole Exome Sequencing (WES) Identifies Ciliopathy and Laterality Candidate Genes for Biliary Atresia (BA)

2017 ◽  
Vol 152 (5) ◽  
pp. S1064
Author(s):  
John-Paul Berauer ◽  
Anya Mezina ◽  
Aniko Sabo ◽  
Madhuri Hegde ◽  
David H. Perlmutter ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Whole Exome

scholarly journals Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure

2019 ◽  
Vol 10 (10) ◽  
pp. e00087 ◽  
Author(s):  
Jorge Rakela ◽  
Jody Rule ◽  
Daniel Ganger ◽  
Julie Lau ◽  
Julie Cunningham ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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